Types of Porphyria

Porphyria is rather complicated; there are actually 7 types (I recently read an article that said there are 8), depending on which enzyme step fails in the production of heme. So, what is heme? Heme is a substance the body produces to make hemoglobin & other substances in the body; it is primarily produced in bone marrow and liver. Apparently, the 7 types of porphyrias can be categorized as acute or cutaneous.

Below is a list of the types of porphyrias in order of the heme production steps.

First step is free of an associated prophyria. I wonder what happens if this step fails.

Plumboporphyria (ALAD) – this is an acute porphyria

Acute Intermittent Porphyria (AIP) – this step occurs in the liver. The name acute is very misleading in that it is a chronic condition; I guess the acute label refers to the severe attacks that can occur. I’ve heard this is the most common of the acute porphyrias…if any porphyria can be called common.

congenital erythropoietic porphyria – this is cutaneous type of porphyria.

variegate porphyria – this is both cutaneous & acute…bummer. My hematologist told me this is probably what I have; and, I always thought it was AIP.

erythropoietic protoporphyria – this is a cutaneous type of porphyria

Types

Acute – ALAD porphyria, acute intermittent porphyria, hereditary coproporphyria, variegate porphyria. Symptoms are pain in gut, limbs, or torso; paralysis, vomiting, constipation, personality changes, paranoia. These symptoms can last for hours, days, or weeks. Sometimes it takes a while before the attack begins; so, pinning down the trigger can be quite confusing. It is my belief that there are some absolute triggers and some irritants, that when combined with other irritants can trigger an attack. I have AIP and get fairly sick after getting a sunburn; so, it would not surprise me if folks with the other acute porphyrias have some sensitivity to bright light….though nothing of the sort suffered by those with cutaneous porphyrias.

Cutaneous – congenital erythropoietic porphyria, porphyria cutanea tarda, hepatoerythropoietic porphyria, hereditary coproporphyria, variegate porphyria, erythropoietic protoporphyria. I am not as familiar with these; but, it is my understanding that there is a strong sensitivity to light, such that when exposed to light blisters & rashes appear. I’ve also heard that hair some times grows out of these blisters.

Sometimes a person with porphyria does not exhibit symptoms; they are said to have latent porphyria. Some members of my family do not exhibit porphyria symptoms; while others in my family have it pretty bad. For those without the symptoms, I still believe it is the root of other issues, such as failure / removal of their gall bladders.

Also, there are instances of people developing porphyria due to exposure to drugs or substances, such as lead. One such situation is prophyria developed by taking medication for chlamydia.

2 Responses to Types of Porphyria

I am the mother of a 45 year old son who has AIP, He has no insurance because he has attacks so often he couldn’t hold down a job. And it makes me angry when they tell us that they have a list of affordable insurance policies. Well unless it’s free we can’t afford it. He is having another attack as I write this. I can’t convince him to go to the hospital unless he gets so mad with the pain he can’t resist any more. They don’t understand it there and say he is over reacting. I have already lost my youngest son and my husband to other diseases and I cannot bear the thought of losing yet another. I feel so helpless during the attacks. We have tried all we can as far as diet and gluclose tabs. Sometimes Pedialite helps a bit. This attack has lasted almost three weeks off and on. Where and how can we get help. Don’t say the disability we have been trying that for a long time only to be denied again. Please

Long before, I knew anything about porphyria, a doctor decided I had irritable bowel & prescribed Donnatal; this stuff works wonders for me. It contains phenobarbital, which is a big no-no for porphyria; but, maybe the belladonna balances it out…whatever; it works for me. Anyway, next time he goes to the doctor, he might suggest irritable bowel as one of his problems. When having an attack, it is common for the smooth muscles to spasm & seize; what works for me is mixing Calm (magnesium citrate) & epsom salts (magnesium sulfate) is with orange juice (to cut the taste). Between the Donnatal & magnesium, the painful part of the attack generally abates. I’m generally worn out afterwards, though. And, I add glucose to give my body energy to fight back. Glucose is no replacement for a carb rich diet, though. I have two types of glucose on hand – the chewable tablets that I pick up at Target & powdered glucose that I order on line from a brew supply house, via Amazon. Liquid benadryl also works; so, I keep it around, too.